Suchergebnisse - "Srinivasan, Varunvenkat M"

PubPharm (128)

11

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

enthalten in: medRxiv : the preprint server for health sciences | 2024

von Banks, E. | Francis, V. | Lin, S. | +82

12

PHACE Syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Coarctation of the Aorta/ Cardiac Defects, and Eye Abnormalities) /Cutaneous Hemangioma-Vascular Complex Syndrome/Pascual-Castroviejo Type II Syndrome

enthalten in: Indian journal of pediatrics | 2024

von Gowda, V. | Srinivasan, V.

13

Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke Like Episodes : Authors' Reply

enthalten in: Indian journal of pediatrics | 2024

von Gowda, V. | Markose, A. | Reddy, V. | +1

14

In silico characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor (SHQ1) from Indian population

enthalten in: Journal of family medicine and primary care | 2024

von Gowda, V. | Srinivasan, V. | Srivastava, S. | +4

15

The Combined Neurogenetic Disorders; Blended Phenotype of Metachromatic Leukodystrophy (MLD) and Glutaric Aciduria Type 1 (GA -1) in an Indian Child

enthalten in: Annals of Indian Academy of Neurology | 2024

von Gowda, V. | Reddy, V. | Srinivasan, V. | +1

16

Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency

enthalten in: Indian journal of pediatrics | 2023

von Gowda, V. | Siddiqa, A. | Srinivasan, V.

17

Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes

enthalten in: Indian journal of pediatrics | 2023

von Markose, A. | Gowda, V. | Reddy, V. | +1

18

Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India

enthalten in: Epilepsia open | 2023

von Nagarajan, B. | Gowda, V. | Yoganathan, S. | +21

19

Drug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings

enthalten in: Indian journal of pediatrics | 2023

von Gowda, V. | Reddy, V. | Krishnanada, V. | +1

20

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Accogli, A. | Lin, S. | Severino, M. | +56